title: A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.
abstract: Mohr-Tranebjaerg syndrome is a rare X-linked condition characterized by the association of dystonia and progressive postlingual sensorineural hearing impairment. Here we report the clinical and genetic findings in a Spanish patient with MTS carrying a novel mutation in the DDP1 (deafness-dystonia peptide 1) gene, which encodes TIMM8a, a component of the mitochondrial protein translocation system. The phenotypic variability observed in patients with Mohr-Tranebjaerg syndrome suggests the involvement of modifier factors which may modulate the clinical manifestations of the syndrome.
authors.affiliation: Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain.
authors.forename: Luis A
authors.initials: LA
authors.lastname: Aguirre
authors.forename: Manuel
authors.initials: M
authors.lastname: Pérez-Bas
authors.forename: Manuela
authors.initials: M
authors.lastname: Villamar
authors.forename: M Asunción
authors.initials: MA
authors.lastname: López-Ariztegui
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Moreno-Pelayo
authors.forename: Felipe
authors.initials: F
authors.lastname: Moreno
authors.forename: Ignacio
authors.initials: I
authors.lastname: del Castillo
mesh_terms: D004252:DNA Mutational Analysis; D003638:Deafness / Q000150:complications / Q000235:genetics*; D004421:Dystonia / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013030:Spain; D013577:Syndrome; D055815:Young Adult
chemical_list: D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; C118122:TIMM8A protein, human